Canonical Allele Identifier: CA8809808
Gene: ENGASE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.79083927C>T , CM000679.2:g.79083927C>T GRCh38
NC_000017.10:g.77080009C>T , CM000679.1:g.77080009C>T GRCh37
NC_000017.9:g.74591604C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000579016.6:c.1418C>T MANE Select ENSP00000462333.1:p.Pro473Leu
ENST00000300682.14:c.1562C>T
ENST00000577783.2:n.314C>T
ENST00000579016.5:c.1418C>T ENSP00000462333.1:p.Pro473Leu
ENST00000583041.2:n.457C>T
ENST00000584568.5:n.415C>T
NM_001042573.2:c.1418C>T NP_001036038.1:p.Pro473Leu
XM_006722015.2:c.1028C>T XP_006722078.1:p.Pro343Leu
XM_006722016.2:c.1028C>T XP_006722079.1:p.Pro343Leu
XM_006722017.2:c.860C>T XP_006722080.1:p.Pro287Leu
XM_006722018.2:c.536C>T XP_006722081.1:p.Pro179Leu
XR_429918.1:n.1551C>T
XR_429919.1:n.1551C>T
XR_429920.1:n.1551C>T
XR_934534.1:n.1551C>T
XR_934535.1:n.1551C>T
XR_934536.1:n.1551C>T
XM_006722017.3:c.860C>T XP_006722080.1:p.Pro287Leu
XM_006722018.3:c.536C>T XP_006722081.1:p.Pro179Leu
XM_017024961.1:c.1028C>T XP_016880450.1:p.Pro343Leu
XR_001752594.1:n.2365C>T
NM_001042573.3:c.1418C>T MANE Select NP_001036038.1:p.Pro473Leu
NM_001396052.1:c.1418C>T NP_001382981.1:p.Pro473Leu
NM_001396053.1:c.1418C>T NP_001382982.1:p.Pro473Leu
NM_001396054.1:c.1607C>T NP_001382983.1:p.Pro536Leu
NM_001396055.1:c.1418C>T NP_001382984.1:p.Pro473Leu